CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative

Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research

Trophic position of dolphins tracks recent changes in the pelagic ecosystem of the Macaronesian region (NE Atlantic)

Dolphins play a key role in marine food webs as predators of mid-trophic-level consumers. Because of their mobility and relatively long life span, they can be used as indicators of large-scale changes in the ecosystem. In this study, we calculated the trophic position (TP) of 5 dolphin species from the Canary, Madeira and Azores Islands using bulk and compound-specific stable isotope ratios from muscle tissue to assess trophic adaptations to recent changes in the availability of feeding resources. Dolphin TP values were then compared with those of 7 other species of cetaceans from this region. Analysis of stable nitrogen isotopes in amino acids of the common dolphin indicated non-significant effects of changes in the basal resources of the food web and thus supported the use of bulk samples for TP estimations. Dolphins occupied an intermediate TP (mean: 3.91 to 4.20) between fin (3.25) and sperm whales (4.95). Species-specific TP were equivalent among islands. However, TP increased for the common dolphin and decreased for the bottlenose dolphin (the latter also becoming more oceanic) between 2000 and 2018 in the Canary Islands. These results suggest different impacts of recent changes in the oceanography and in the pelagic food web of the Macaronesian region on the trophic ecology of dolphin species.This study was supported in part by the projects QLOCKS (PID2020-115620RB-I00), funded by MCIN/AEI/10.13039/501100011033 (Spain), MISTIC SEAS 2 (‘Applyinga subregional coherent and coordinated approach to the monitoring and assessment of marine biodiversity in Macaronesia for the second cycle of the MSFD’), funded by the Directorate General Environment of the European Commission (Grant Agreement No. 11.0661/2017/750679/SUB/ENV.C2), MISTIC SEAS 3 (‘Developing a coordinated approach for assessing Descriptor 4 via its linkages with D1 and other relevant descriptors in the Macaronesian subregion’), funded by the Directorate General Environment of the European Commission (Grant Agreement No. 110661/2018/794676/SUB/ENV.C2), RACAM (Rede de Arrojamentos de Cetáceos do Arquipélago da Madeira), implemented by the Madeira Whale Museum and funded by the Machico Municipality and projects MARCET (MAC/1.1b/149) and MARCET II (MAC/2.6c/392), both co-financed by EU Programme INTERREG MAC 2014−2020, and through the Commission (28-5307) for ‘Technical scientific advice for the protection of the marine environment: assessment and monitoring of marine strategies, monitoring of marine protected areas of state competence (2018−2021)’ of the Spanish Ministry of Economy and Competitiveness Demographic Challenge (MITECO). Data collection in the Azores was supported by FCT and FRCT through TRACE-PTDC/MAR/74071/2006, MAPCET-M2.1.2/F/012/2011, IF/00943/2013/CP1199/CT0001 (FEDER, COMPETE, QREN, POPH, ESF, Portuguese Ministry for Science and Education, Azores 2020 Operational Programme). M.A.S. was funded by SUMMEREU-H2020 GA 817806. M.A.S. and R.P. were funded by OP AZORES 2020, through the EU Fund 01-0145-FEDER-000140. Okeanos is funded by FCT (UIDB/05634/2020) and by the Regional Government of the Azores (M1.1.A/REEQ.CIENTÍFICO UI&D/2021/010). J.G. was supported by the Spanish National Programme Juan de la Cierva-Formación (MCIN/AEI/10.13039/501100011033 FJC2019-040016-I). This work acknowledges the ‘Severo Ochoa Centre of Excellence’ accreditation (CEX2019-000928-S) to the Institute of Marine Science (ICM-CSIC).info:eu-repo/semantics/publishedVersio

Stable C and N isotope data for cetacea collected in the Macaronesian region between 1996 and 2018

This dataset provides the values of stable carbon and nitrogen stable isotopes in bulk muscle samples of 11 species of cetacea from the Macaronesian regions (Canary, Madeira, and Azores Islands) collected between 1996 and 2018. The values of nitrogen stable isotopes in amino acids of muscle samples of the common dolphin (Delphinus delphis) were also provided. The samples were collected from stranded animals by trained personnel. Cetacean samples were obtained from necropsies of stranded cetaceans following a standard protocol defined by the European Cetacean Society (after Kuiken and García Hartmann 1991). Additional data included body length, age (adult, juvenile) and sex for each animal, along with carbon, nitrogen, and lipid content of muscle samples. Isotope data for bulk samples included values for samples with and without lipids. Exact latitude and longitude coordinates for each sample are not available, geographical position of the center of a circle including each island is given instead. Samples were freeze dried or dried (60°C, 48h) before analysis. Stable isotopes in bulk muscle samples were analysed in an isotope-ratio mass spectrometer coupled to an elemental analyser. Aliquots of each sample were analysed whole or after lipid extraction with trichloromethane:methanol (Bligh and Dyer, 1959). Stable nitrogen isotopes in amino acids were analysed after hydrolisis and derivatization of samples in an isotope-ratio mass spectrometer coupled to a gas chromatograph. Details on the analytical procedures can be found in Bode et al. (2021)

Spatial variability of the relationships of runoff and sediment yield with weather types throughout the Mediterranean basin

Summarization: Soil degradation by water is a serious environmental problem worldwide, with specific climatic factors being the major causes. We investigated the relationships between synoptic atmospheric patterns (i.e. weather types, WTs) and runoff, erosion and sediment yield throughout the Mediterranean basin by analyzing a large database of natural rainfall events at 68 research sites in 9 countries. Principal Component Analysis (PCA) was used to identify spatial relationships of the different WTs including three hydro-sedimentary variables: rainfall, runoff, and sediment yield (SY, used to refer to both soil erosion measured at plot scale and sediment yield registered at catchment scale). The results indicated 4 spatial classes of rainfall and runoff: (a) northern sites dependent on North (N) and North West (NW) flows; (b) eastern sites dependent on E and NE flows; (c) southern sites dependent on S and SE flows; and, finally, (d) western sites dependent on W and SW flows. Conversely, three spatial classes are identified for SY characterized by: (a) N and NE flows in northern sites (b) E flows in eastern sites, and (c) W and SW flows in western sites. Most of the rainfall, runoff and SY occurred during a small number of daily events, and just a few WTs accounted for large percentages of the total. Our results confirm that characterization by WT improves understanding of the general conditions under which runoff and SY occur, and provides useful information for understanding the spatial variability of runoff, and SY throughout the Mediterranean basin. The approach used here could be useful to aid of the design of regional water management and soil conservation measures.Παρουσιάστηκε στο: Journal of Hydrolog